ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter)

dbSNP: rs765019354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001290206 SCV001478071 pathogenic Obesity due to prohormone convertase I deficiency 2021-01-21 no assertion criteria provided clinical testing

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